Canonical Allele Identifier: CA361850190

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 861774
• ClinVar RCV Id: RCV001068362
• dbSNP Id: rs1581592590
• gnomAD v3: 5-151822869-G-T
• gnomAD v4: 5-151822869-G-T
• MyVariant Identifiers: chr5:g.151202430G>T (hg19) ; chr5:g.151822869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822869G>T , CM000667.2:g.151822869G>T	GRCh38
NC_000005.9:g.151202430G>T , CM000667.1:g.151202430G>T	GRCh37
NC_000005.8:g.151182623G>T	NCBI36
NG_011764.1:g.106968C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1154C>A MANE Select	ENSP00000274576.5:p.Ala385Asp
ENST00000274576.8:c.1154C>A	ENSP00000274576.4:p.Ala385Asp
ENST00000455880.2:c.1178C>A	ENSP00000411593.2:p.Ala393Asp
ENST00000462581.6:c.*912C>A	ENSP00000430595.1:n.*912C>A
NM_000171.3:c.1154C>A	NP_000162.2:p.Ala385Asp
NM_001146040.1:c.1178C>A	NP_001139512.1:p.Ala393Asp
NM_001292000.1:c.905C>A	NP_001278929.1:p.Ala302Asp
NM_000171.4:c.1154C>A MANE Select	NP_000162.2:p.Ala385Asp
NM_001146040.2:c.1178C>A	NP_001139512.1:p.Ala393Asp
NM_001292000.2:c.905C>A	NP_001278929.1:p.Ala302Asp